Advances in quality of life of patients with phenylketonuria / 国际儿科学杂志

ABSTRACT

Phenylketonuria,an autosomal recessive inherited disease characterized by amino acid metabolism abnormality,has been listed as a screening program for neonatal genetic metabolic diseases in China.Eearly screening and treatment can reduce or even avoid the disease,However,delayed intervention can influence social functioning and psychological development.The research of life quality including psychological and social functioning in phenylketonuria patients has atlracted the increasing attention along with the medical model transformation.In order to study quality of life in patients with phenylketonuria,life quality questionnaires have been developed.It reveals that early and long-term treatments can improve the quality of life.The assessment and present condition as well as the impact factors of quality of life in phenylketonuria patients have been reviewed in this article,which have important value to evaluate the quality of life and guide clinical treatments as well as judge the prognosis of patients with phenylketonuria.